Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review

Area of Science:

• Immunology
• Genetics
• Infectious Diseases

Background:

• Inborn errors of immunity (IEI) are genetic disorders characterized by enhanced susceptibility to microbes.
• Combined Immunodeficiency Disorders (CIDs) are a significant category of IEI, distinct from Severe Combined Immune Deficiency (SCID).
• CIDs often present with syndromic features and defective humoral and cellular immunity, leading to recurrent infections.

Purpose of the Study:

• To review commonly encountered Combined Immunodeficiency Disorders (CIDs) based on the 2022 International Union of Immunological Societies (IUIS) classification.
• To highlight the clinical features, diagnostic challenges, and management strategies for CIDs.
• To emphasize the importance of precise diagnosis for treatment, genetic counseling, and prenatal diagnosis.

Main Methods:

• Narrative review of the literature.
• Based on the International Union of Immunological Societies' 2022 (IUIS 2022) Update on phenotypic classification of human inborn errors of immunity.
• Focus on combined immunodeficiency disorders (CIDs) with susceptibility to infections.

Main Results:

• Combined immunodeficiency disorders (CIDs) are characterized by impaired immune responses, leading to susceptibility to a wide spectrum of infections.
• These disorders typically manifest beyond infancy, unlike SCID, and can be associated with syndromic features.
• Disease presentation varies, with onset usually in early childhood but potential for later presentation in mild cases.

Conclusions:

• Accurate diagnosis of CIDs is crucial for effective management strategies and timely treatment of infections.
• Diagnosis facilitates genetic counseling, including prenatal diagnosis options.
• Understanding CIDs is essential for improving patient outcomes and managing recurrent infections.